Canonical Allele Identifier: CA125166
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15352
dbSNP Id: rs35256489
gnomAD v2: 11-5246940-A-G
gnomAD v3: 11-5225710-A-G
gnomAD v4: 11-5225710-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5225710A>G , CM000673.2:g.5225710A>G GRCh38
NC_000011.9:g.5246940A>G , CM000673.1:g.5246940A>G GRCh37
NC_000011.8:g.5203516A>G NCBI36
NG_000007.3:g.71906T>C
NG_059281.1:g.6362T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647020.1:c.332T>C ENSP00000494175.1:p.Leu111Pro
ENST00000335295.4:c.332T>C MANE Select ENSP00000333994.3:p.Leu111Pro
ENST00000475226.1:n.264T>C
ENST00000633227.1:c.*148T>C ENSP00000488004.1:n.*148T>C
NM_000518.4:c.332T>C NP_000509.1:p.Leu111Pro
NM_000518.5:c.332T>C MANE Select NP_000509.1:p.Leu111Pro